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author saketkc
date Tue, 15 Apr 2014 13:04:57 -0400
parents 84247b644a7d
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#id	location	allele	gene	hgnc	hgncdesc	transcript	ensp	sw	protein_position	amino_acids	uploaded_variation	cdna_position	cds_position	codons	existing_variation	sift	polyphen	mass	siftTransfic	siftTransficLabel	pph2Transfic	pph2TransficLabel	maTransfic	maTransficLabel
19	7:38471790	A	ENSG00000078053	AMPH	amphiphysin	ENST00000428293	ENSP00000390734	NA	386	T/M	7_38471790_A	1226	1157	aCg/aTg	COSM53413	0.01	0.998	NA	1.060	medium_impact	1.692	high_impact	NA	NA
17	7:43918688	C	ENSG00000106608	URGCP	upregulator of cell proliferation	ENST00000447717	ENSP00000402803	NA	82	L/R	7_43918688_C	762	245	cTc/cGc	COSM53414	0.05	0.995	NA	0.428	medium_impact	1.548	high_impact	NA	NA
18	6:88372821	A	ENSG00000135336	ORC3	origin recognition complex, subunit 3	ENST00000546266	ENSP00000444695	NA	455	A/T	6_88372821_A	1720	1363	Gcc/Acc	COSM53412	0.01	0.93	NA	1.183	medium_impact	1.186	medium_impact	NA	NA
15	6:88372821	A	ENSG00000135336	ORC3	origin recognition complex, subunit 3	ENST00000392844	ENSP00000376586	ORC3_HUMAN	598	A/T	6_88372821_A	1840	1792	Gcc/Acc	COSM53412	0.01	0.93	1.95	1.183	medium_impact	1.186	medium_impact	0.672	low_impact
16	6:88372821	A	ENSG00000135336	ORC3	origin recognition complex, subunit 3	ENST00000452292	ENSP00000411130	NA	536	A/T	6_88372821_A	1615	1606	Gcc/Acc	COSM53412	0.01	0.266	NA	1.183	medium_impact	0.241	medium_impact	NA	NA
13	5:41934236	G	ENSG00000151876	FBXO4	F-box protein 4	ENST00000509134	ENSP00000421749	NA	242	K/E	5_41934236_G	733	724	Aag/Gag	COSM53411	0.68	0.01	NA	-1.057	low_impact	-0.873	low_impact	NA	NA
14	5:41934236	G	ENSG00000151876	FBXO4	F-box protein 4	ENST00000281623	ENSP00000281623	FBX4_HUMAN	242	K/E	5_41934236_G	780	724	Aag/Gag	COSM53411	0.76	0.001	0	-1.222	low_impact	-1.461	low_impact	-1.088	low_impact
11	9:32473058	A	ENSG00000107201	DDX58	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	ENST00000379882	ENSP00000369212	NA	598	L/F	9_32473058_A	1952	1794	ttA/ttT	COSM53415	0.01	0.96	NA	1.138	medium_impact	1.048	medium_impact	NA	NA
12	5:41934236	G	ENSG00000151876	FBXO4	F-box protein 4	ENST00000296812	ENSP00000296812	NA	242	K/E	5_41934236_G	780	724	Aag/Gag	COSM53411	0.67	0.01	NA	-1.039	low_impact	-0.873	low_impact	NA	NA
21	7:38471790	A	ENSG00000078053	AMPH	amphiphysin	ENST00000353242	ENSP00000342268	NA	156	T/M	7_38471790_A	1226	467	aCg/aTg	COSM53413	0	0.983	NA	1.935	medium_impact	1.177	medium_impact	NA	NA
20	7:38471790	A	ENSG00000078053	AMPH	amphiphysin	ENST00000356264	ENSP00000348602	AMPH_HUMAN	386	T/M	7_38471790_A	1373	1157	aCg/aTg	COSM53413	0.01	0.998	1.79	1.060	medium_impact	1.692	high_impact	0.724	low_impact
22	6:88372821	A	ENSG00000135336	ORC3	origin recognition complex, subunit 3	ENST00000257789	ENSP00000257789	NA	599	A/T	6_88372821_A	1829	1795	Gcc/Acc	COSM53412	0.01	0.983	NA	1.183	medium_impact	1.572	high_impact	NA	NA
23	7:38471790	A	ENSG00000078053	AMPH	amphiphysin	ENST00000325590	ENSP00000317441	NA	386	T/M	7_38471790_A	1226	1157	aCg/aTg	COSM53413	0.02	0.998	NA	0.794	medium_impact	1.692	high_impact	NA	NA
24	7:38471790	A	ENSG00000078053	AMPH	amphiphysin	ENST00000441628	ENSP00000415085	NA	137	T/M	7_38471790_A	408	410	aCg/aTg	COSM53413	0	0.983	NA	1.935	medium_impact	1.177	medium_impact	NA	NA
3	7:43918688	C	ENSG00000106608	URGCP	upregulator of cell proliferation	ENST00000223341	ENSP00000223341	NA	82	L/R	7_43918688_C	622	245	cTc/cGc	COSM53414	0.05	0.995	NA	0.428	medium_impact	1.548	high_impact	NA	NA
2	9:32473058	A	ENSG00000107201	DDX58	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	ENST00000545044	ENSP00000443055	NA	440	L/F	9_32473058_A	1810	1320	ttA/ttT	COSM53415	0	0.918	NA	2.043	high_impact	0.865	medium_impact	NA	NA
10	9:32473058	A	ENSG00000107201	DDX58	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	ENST00000379883	ENSP00000369213	DDX58_HUMAN	643	L/F	9_32473058_A	2087	1929	ttA/ttT	COSM53415	0.01	0.96	3.78	1.138	medium_impact	1.048	medium_impact	2.704	medium_impact
1	7:43918688	C	ENSG00000106608	URGCP	upregulator of cell proliferation	ENST00000402306	ENSP00000384955	NA	116	L/R	7_43918688_C	387	347	cTc/cGc	COSM53414	0.05	0.995	NA	0.428	medium_impact	1.548	high_impact	NA	NA
0	9:32473058	A	ENSG00000107201	DDX58	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	ENST00000542096	ENSP00000442160	NA	572	L/F	9_32473058_A	2292	1716	ttA/ttT	COSM53415	0.01	0.96	NA	1.138	medium_impact	1.048	medium_impact	NA	NA
7	7:43918688	C	ENSG00000106608	URGCP	upregulator of cell proliferation	ENST00000453200	ENSP00000396918	URGCP_HUMAN	125	L/R	7_43918688_C	868	374	cTc/cGc	COSM53414	0.05	0.995	2.545	0.428	medium_impact	1.548	high_impact	1.119	medium_impact
6	7:43918688	C	ENSG00000106608	URGCP	upregulator of cell proliferation	ENST00000443736	ENSP00000392136	NA	82	L/R	7_43918688_C	420	245	cTc/cGc	COSM53414	0.05	0.995	NA	0.428	medium_impact	1.548	high_impact	NA	NA
5	7:43918688	C	ENSG00000106608	URGCP	upregulator of cell proliferation	ENST00000455877	ENSP00000392963	NA	82	L/R	7_43918688_C	469	245	cTc/cGc	COSM53414	0	0.995	NA	1.969	medium_impact	1.548	high_impact	NA	NA
4	7:43918688	C	ENSG00000106608	URGCP	upregulator of cell proliferation	ENST00000426198	ENSP00000389990	NA	82	L/R	7_43918688_C	640	245	cTc/cGc	COSM53414	0.09	0.995	NA	0.183	medium_impact	1.548	high_impact	NA	NA
9	9:32473058	A	ENSG00000107201	DDX58	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	ENST00000379868	ENSP00000369197	NA	440	L/F	9_32473058_A	1823	1320	ttA/ttT	COSM53415	0.01	0.96	NA	1.138	medium_impact	1.048	medium_impact	NA	NA
8	7:43918688	C	ENSG00000106608	URGCP	upregulator of cell proliferation	ENST00000336086	ENSP00000336872	NA	82	L/R	7_43918688_C	2482	245	cTc/cGc	COSM53414	0.05	0.995	NA	0.428	medium_impact	1.548	high_impact	NA	NA